Allele Registry

Canonical Allele Identifier: CA120590

Gene:

Linked Data - Expert Curation

ClinGen Evidence Repository:

Classification Pathogenic

Condition mitochondrial disease

VCEP Mitochondrial Diseases VCEP

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chrMT:g.1555A>G

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000010254

RCV000010255

RCV000010256

RCV000224935

RCV000505667

RCV000722074

RCV000844677

RCV001787321

RCV001787374

RCV001787375

RCV001787376

RCV001787377

RCV001787378

RCV003153300

RCV003445067

RCV004554597

ClinVar Variation:

9628

dbSNP:

267606617

Genomic Alleles

HGVS	Genome Assembly
NC_012920.1:m.1555A>G , J01415.2:m.1555A>G	GRCh38

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